title: Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.
authors.affiliation: Laboratoire de Biochimie Génétique, CHU de Montpellier, CNS UPR 9008, France.
authors.forename: C
authors.initials: C
authors.lastname: Maugard
authors.forename: S
authors.initials: S
authors.lastname: Tuffery
authors.forename: P
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: J F
authors.initials: JF
authors.lastname: Schved
authors.forename: J C
authors.initials: JC
authors.lastname: Gris
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D007446:Chromosome Inversion; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics*; D016368:Frameshift Mutation; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D012333:RNA, Messenger / Q000378:metabolism; D014158:Transcription, Genetic
chemical_list: D012333:RNA, Messenger; D005169:Factor VIII